SCA12

An unusual mutation leads to an unusual spinocerebellar ataxia

Susan E. Holmes, Elizabeth O. Hearn, Christopher A Ross, Russell Louis Margolis

Research output: Contribution to journalArticle

Abstract

Spinocerebellar ataxia type 12 (SCA12) is an autosomal dominant neurodegenerative disorder which has been described in pedigrees of German American and Indian descent. The phenotype typically begins with tremor in the fourth decade, progressing to include ataxia and other cerebellar and cortical signs. SCA12 is associated with an expansion of a CAG repeat in the 5′ region of the gene PPP2R2B which encodes a brain-specific regulatory subunit of the protein phosphatase PP2A. The repeat size ranges from 55 to 78 triplets in the mutant allele of affected individuals, and from 9 to 28 triplets in normal alleles. It is possible that an expansion mutation in PPP2R2B may influence PPP2R2B expression, perhaps altering the activity of PP2A, an enzyme implicated in multiple cellular functions, including cell cycle regulation, tau phosphorylation, and apoptosis.

Original languageEnglish (US)
Pages (from-to)397-403
Number of pages7
JournalBrain Research Bulletin
Volume56
Issue number3-4
DOIs
StatePublished - Nov 1 2001

Fingerprint

Spinocerebellar Ataxias
Alleles
Cerebellar Ataxia
Mutation
North American Indians
Phosphoprotein Phosphatases
Tremor
Pedigree
Neurodegenerative Diseases
Cell Cycle
Phosphorylation
Apoptosis
Phenotype
Brain
Enzymes
Genes
Spinocerebellar Ataxia 12

Keywords

  • Ataxia
  • Neurodegeneration
  • PPP2R2B
  • Promoter
  • Tremor
  • Trinucleotide repeat

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

SCA12 : An unusual mutation leads to an unusual spinocerebellar ataxia. / Holmes, Susan E.; Hearn, Elizabeth O.; Ross, Christopher A; Margolis, Russell Louis.

In: Brain Research Bulletin, Vol. 56, No. 3-4, 01.11.2001, p. 397-403.

Research output: Contribution to journalArticle

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